A likelihood-based framework for variant calling and de novo mutation detection in families (Q34440676)

2 August 2017

title

A likelihood-based framework for variant calling and de novo mutation detection in families (English)

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2 August 2017

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2 August 2017

Serena Sanna

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Carlo Sidore

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Francesco Cucca

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Hyun M Kang

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2 August 2017

Bingshan Li

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2 August 2017

Wei Chen

series ordinal

1 reference

2 August 2017

Xiaowei Zhan

series ordinal

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2 August 2017

Fabio Busonero

series ordinal

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2 August 2017

publication date

4 October 2012

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2 August 2017

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

e1002944

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Creative Commons Attribution 4.0 International

2 August 2017

start time

4 October 2012

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

6 July 2018

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

6 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

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6 July 2018

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Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

6 July 2018

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6 July 2018

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6 July 2018

1 reference

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Strong association of de novo copy number mutations with sporadic schizophrenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464213

Family-based association tests for genomewide association scans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464213

Strong association of de novo copy number mutations with autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464213

Heritability of cardiovascular and personality traits in 6,148 Sardinians

6 July 2018

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Calibrating a coalescent simulation of human genome sequence variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464213

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6 July 2018

1 reference

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6 July 2018

1 reference

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Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

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A General Model for the Genetic Analysis of Pedigree Data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464213

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464213

A de novo paradigm for mental retardation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464213

Increased exonic de novo mutation rate in individuals with schizophrenia

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23055937

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002944

1 reference

2 August 2017

1 reference

2 August 2017

1 reference